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Neurofibromatosis type 3
3 OMIM references -
3 associated genes
117 connected diseases
No signs/symptoms info
Disease Type of connection
Coffin-Siris syndrome
Familial rhabdoid tumor
Giant cell glioblastoma
Familial multiple meningioma
Atypical teratoid tumor
Neurofibromatosis type 2
Intellectual deficit - sparse hair - brachydactyly
Precursor T-cell acute lymphoblastic leukemia
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Precursor B-cell acute lymphoblastic leukemia
Cowden syndrome
Proteus syndrome
Noonan syndrome
Familial pancreatic carcinoma
Pseudohypoaldosteronism type 2E
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Burkitt lymphoma
Adrenocortical carcinoma
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Li-Fraumeni syndrome
Papilloma of choroid plexus
Synovial sarcoma
Congenital dyserythropoietic anemia type IV
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
6q25 microdeletion syndrome
Uveal coloboma - cleft lip and palate - intellectual deficit
Williams syndrome
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
Tyrosinemia type 2
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Xeroderma pigmentosum complementation group C
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Ataxia-telangiectasia variant
Combined cervical dystonia
Estrogen resistance syndrome
Hereditary gingival fibromatosis
Mantle cell lymphoma
Squamous cell carcinoma of head and neck
Autosomal recessive primary microcephaly
Premature chromosome condensation with microcephaly and intellectual deficit
17p11.2 microduplication syndrome
17q23.1q23.2 microdeletion syndrome
2q37 microdeletion syndrome
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Autosomal dominant secondary polycythemia
Char syndrome
Childhood-onset nemaline myopathy
Chronic mucocutaneous candidiasis
Chronic myeloid leukemia
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Intermediate nemaline myopathy
Isolated adermatoglyphia
Isolated delta-storage pool disease
Kleefstra syndrome due to 9q34 microdeletion
Kleefstra syndrome due to a point mutation
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Multiple paragangliomas associated with polycythemia
Myelofibrosis with myeloid metaplasia
Severe congenital nemaline myopathy
Smith-Magenis syndrome
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Susceptibility to viral and mycobacterial infections
Typical nemaline myopathy
X-linked Emery-Dreifuss muscular dystrophy
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal dominant nonsyndromic intellectual deficit
Brachydactyly type A2
Brachydactyly type C
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Translocation renal cell carcinoma
Familial prostate cancer
Glucocorticoid resistance
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Familial retinoblastoma
Isolated focal cortical dysplasia type IIb
Monosomy 13q14
Tuberous sclerosis
Unilateral retinoblastoma
Richieri Costa-Pereira syndrome
- NF3
- Neurilemmomatosis
- Schwannomatosis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
1 MeSH reference: C536641

Gene symbol UniProt reference OMIM reference
LZTR1 Q8N653600574
NF2 P35240607379
SMARCB1 Q12824601607
No signs/symptoms info available.